A 53 year old man presents with increasing gastric pain and is found to have a 3 cm mass located in the anterior wall of his stomach. This mass is resected and histologic examination reveals a tumor composed of cells having elongated, spindle-shaped nuclei. The tumor does not connect to the overlying gastric epithelium and is instead found only in the wall of the stomach. The tumor cells stain positively with CD117, but negatively with both desmin and S-100. Special studies find that these tumor cells have abnormalities of the KIT gene. Which of the following is the most likely diagnosis?

a. Lymphoma of mucosa-associated lymphoid tissue (MALToma)
b. Ectopic islet cell adenoma (VIPoma)
c. Gastrointestinal stromal tumor (GIST)
d. Submucosal leiomyoma ("fibroid tumor")
e. Nonchromaffin paraganglioma (chemodectoma)

Gastrointestinal stromal tumors (GIST) are rare neoplasms that originate from mesenchymal cells, generally express the KIT receptor (CD117) and present activated mutations of the tyrosine kinase or tyrosine kinase receptor proto-oncogene, cKIT (it is the gene that encodes KIT protein synthesis). GISTs can be located in any portion of the wall of the GI tract, but most are located in the submucosa or in the muscularis propria. Some are predominantly extramural; large ones can infiltrate neighboring organs

luisvaschetto luisvaschetto · Answer 2 · 2022-02-24T11:16:47+01:00

A gastrointestinal stromal tumor (GIST) is the most likely diagnosis (Option C).

Cancer is a multifactorial disease in which cancer cells divide and proliferate to produce a tumor.

Cancer is often associated with mutations in key genes which are required for the normal functioning of a given tissue (e.g. cell cycle genes).

A gastrointestinal stromal tumor (GIST) is a tumor in which cells of the stomach proliferate in an uncontrolled manner.

In conclusion, a gastrointestinal stromal tumor (GIST) is the most likely diagnosis (Option C).

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